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Biochem Lec > Aminoacidopathies > Flashcards

Aminoacidopathies Flashcards

1
Q

Class of inherited errors of metabolism

There is an enzyme defect that inhibit the bodus’s ability to metabolize certain amino acids

A

Aminoacidopathies

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2
Q

Dife the concept of inborn errors of metabolism

A

1909 Garrod

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3
Q

Probable reasons of aminoacidopathies

A

A. Activity of a specific enzyme in the metabolic pathway

B. membrane transport system for amino acids

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4
Q

Aminoacidopathies

A
  1. Phenylketonuria
  2. Tyrosinemia
  3. Maple syrup Urine disease MSUD
  4. Alkaptonuria Black urine disease
  5. Cystinuria
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5
Q

Phenylalanine hydroxylase (PAH) dificiency

A

Phenylketonuria (PKU)

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6
Q

Catalyzes the conversion of phenylalanine to tyrosine

A

Phenylalanine hydroxylase

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7
Q

Deficiency in the enzymes for regeneration and synthesis of tetrabydrobiopterin (BH4)

Elevated blood levels of phenylalanine and deficient production of neurotransmitters from tyrosine and tryptophan

A

Hyperphenylalaninemia

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8
Q

Cofactor of enzymatic hydroxylation of the aromatic amino acids (phenylalanine, tyrosine, and tryptophan)

A

BH4

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9
Q

Phenylalanine levels

A

Greater than 1,200 micromol/L

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10
Q

New bor.: Upper limit of normal

A

120micromol/L (2mg/dl)

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11
Q

Metabolites of PKU

A

Blood and urine (musty odor)

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12
Q

When PKU is untreated

A

Very low IQ (below50)

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13
Q

Happy hormone

A

Serotonin

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14
Q

Synthesis of serotonin

A

Tryptophan

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15
Q

Defect in myelin formation

A

Insufficient synthesis of serotonin from tryptophan

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16
Q

Pigment synthesized from tyrosinase accumulation of phenylalanine competitively inhibits tyronase and impairs melanin formation

A

melanin

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17
Q

Essential precursor of tyrosine

A

Phenylalanine

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18
Q

How to reduce phenylalanine levels

A

Increasing the activity of the PAH enzyme
Follow phenylalanin-restricted diet

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19
Q

Characterized by the excretion of tyrosine and tyrosine catabolites in urine

A

Tyrosinemia

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20
Q

Most severe form of tyrosinemia
Low levels of the enzyme fumaryl acetoacetate hydrolase (5th enzyme)

A

Type 1 tyrosinemia

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21
Q

Leads to liver and kidney failure, problems affecting the nervous system, and and increase risk of cirrhosis or liver cancer

A

Type 1 Tyrosinemia

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22
Q

Manangement for type 1 Tyrosinemia

A
  1. Nitisone (NTBC)
    BN: Orfadin, Nitryr
    Class: Tyrosine Decredation Inhibitor
  2. Low- phenylalanine and tyrosine Diet
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23
Q

Aka Richner-Hanhart syndrome
deficiency of tyrosine aminotransferase

A

Type 2 Tyrosinemia

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24
Q

S/Sx of type 2 Tyrosinemia

A

Mentally retarded
Excessive tearing, photophobia, eye pain, redness, and painful skin lesions on the palms and soles of the feet

25
Q

Manangement of Type 2 Tyrosinemia

A
  1. No cure
  2. Diet of tyrosine, phenylalanine, and methionine
  3. Keratolytic and emollient for hyperkeratotic skin lesions
  4. Oral retinoids for persistent keratoderma
26
Q

Rare disorder
Deficient of the enzyme 4-hydroxyphenylpyruvate dioxygenase

A

Type 3 Tyrosinemia

27
Q

1st FDA approved enzyme substitution therapy as of 2018
Reduce blood Phe levels

A

Pegvalaise-PQPZ (Palynziq)

28
Q

Magic sugar

A

Aspartame

29
Q

Management of Type 3 Tyrosinemia

A

Phenylalanine and tyrosine-restricted diet

No treatment

30
Q

Defective enzyme is homogentisate oxidase in tyrosine metabolism

A

Alkaptonuria

31
Q

Urine in alkaptonuric patient resembles _____

A

Coke in color

32
Q

Alkapton deposition in connective tissue, bones and various organs

A

Ochronosis

33
Q

Deposition of pigment alkapton (in joints), produced from homogentisate

A

Arthritis

34
Q

Management of Alkaptonuria

A

Medical therapy: ameliorate rate of pigment deposition

Ascorbic acid: retard the process of conversion of homogentisate to polymeric material

Nitisinone: reduce homogentisic acid excretion

35
Q

Reduced activity of the enzyme branched-chain Ω ketoacid dehydrogenase

Blosk the normal metaboyof leucine, isoleucine, and valine

A

Maple Syrup Urine Disease (MSUD)

36
Q

Degredation of propionyl CoA

A

Valine

37
Q

Degredation of propionyl CoA and acetyl CoA

A

Isoleucine

38
Q

Degredation of acetoacetate and acetyl CoA

A

Leucine

39
Q

Urine odor of a defective alpha-keto acid dehydrogenase

A

Maple syrup or burnt sugar

40
Q

Ω keto-analogues accumulate in a defective Ω-keto acid dehydrogenase

A

Ω-ketoisovalerate for valine
Ω-keto-§-methylvalerate for isoleucine
Ω-ketoisocaproate for leucine (transamination)

41
Q

Characteristics maple syrup or burnt sugar odor

A

Urine, breath, and skin

42
Q

Essential coenzyme in carbohydrate and amino acid metabolism

A

Thiamine

43
Q

Management of MSUD
Consultation with neonatal/ paediatric nutritionist

A

Dietary restriction of branched-chain AA

44
Q

Amino acid transport disorder
Defective transport of cystine and basic amino acid across renal tubule and the small intestine

A

Cystinuria

45
Q

Involving the gene that codes for cystine transporter known as SLC3A1

A

Autosomal-recessive defect

46
Q

Increased concentrations of cystine and basic amino acids. (ornithine, lysine, and arginine)

A

Urine amino acids

47
Q

Normal in cystinuria

A

Plasma amino acid

48
Q

Clinical presentation of cystinuria

A
  1. Cystine stones
  2. Chronic urinary tract infection
  3. Hematuria and dysuria
49
Q

Decrease urinary cystine concentration

A

Hyperdiuresis

50
Q

Patients should drink every hour

A

240 ml

51
Q

Patient should drink before bedtime or atleast during the night

A

480 ml

52
Q

Prevent the precipitation of cystine calculi and even aid in dissolution

A

Alkaline urine

53
Q

Maintain urinary pH must be maintained at

A

7-7.5

54
Q

Urinary alkalinizers

A

Potassium Citrate
Acetazolamide

55
Q

Chelating agents which is a manage ment of Cystinuria

A

Penicillamine
Alpha-mercaltopropionylglycine
Bucillamine

56
Q

Ability to dissociate the cystine molecule into disulphide moieties with muchh higher solubilities than parent molecule

A

Cystine-binding and Cystine-reducing agents

57
Q

L-cystine dimethyl esters (L-CDME) and L-cystine methyl esters (L-CME)

A

Crystal Growth Inhibitors

58
Q

First drug to help manange PKU

A

Sapropterin dihydrochloride (Kuvan)

Biochem Lec (2 decks)

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